A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13606946



Internal ID3608762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114316410..114335883hg38UCSC Ensembl
chr9:117078690..117098163hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3819474
hg1919474
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621554
Supporting Variants
SamplesNA18620
Known GenesAKNA, ORM1, ORM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13606946
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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